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- Beba84058a2239053b08752adefe4dcce hasDbXref "NCIT:P378" @default.
- Beba84058a2239053b08752adefe4dcce type Axiom @default.
- Beba84058a2239053b08752adefe4dcce annotatedProperty IAO_0000115 @default.
- Beba84058a2239053b08752adefe4dcce annotatedSource MONDO_0007294 @default.
- Beba84058a2239053b08752adefe4dcce annotatedTarget "An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation." @default.